Trial Review

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been endorsed by the ANZCTR. Before participating in a study, talk to your health care provider and refer to this information for consumers
Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/ct2/show/NCT00144794




Registration number
NCT00144794
Ethics application status
Date submitted
2/09/2005
Date registered
5/09/2005
Date last updated
10/06/2024

Titles & IDs
Public title
Mucopolysaccharidosis I (MPS I) Registry
Scientific title
Mucopolysaccharidosis I (MPS I) Registry
Secondary ID [1] 0 0
U1111-1294-8266
Secondary ID [2] 0 0
DIREGC07008
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Mucopolysaccharidosis I (MPS I) 0 0
Condition category
Condition code
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders
Metabolic and Endocrine 0 0 0 0
Other metabolic disorders

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
To evaluate the long-term effectiveness of Aldurazyme
Timepoint [1] 0 0
Approximately 17 Years

Eligibility
Key inclusion criteria
- All patients with a confirmed diagnosis of MPS I are eligible for inclusion. Confirmed
diagnosis is defined as: A. documented biochemical evidence of a deficiency in alpha
(a)-L-iduronidase enzyme activity and/or B. mutation(s) in the gene coding for
a-L-iduronidase, or measurable clinical signs and symptoms of MPS I

- For all patients there should be a completed patient authorization form
Minimum age
No limit
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
- No exclusion criteria for participation in the MPS I Registry. NOTE: Registry
participation does not exclude participation in other clinical studies.

Study design
Purpose
Duration
Selection
Timing
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
20/11/2003
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
31/01/2034
Actual
Sample size
Target
1500
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
NSW,QLD
Recruitment hospital [1] 0 0
Investigational Site Number : 151069 - Westmead
Recruitment hospital [2] 0 0
Investigational Site Number : 152096 - Brisbane
Recruitment postcode(s) [1] 0 0
2145 - Westmead
Recruitment postcode(s) [2] 0 0
4101 - Brisbane
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
Arizona
Country [2] 0 0
United States of America
State/province [2] 0 0
Arkansas
Country [3] 0 0
United States of America
State/province [3] 0 0
California
Country [4] 0 0
United States of America
State/province [4] 0 0
Colorado
Country [5] 0 0
United States of America
State/province [5] 0 0
Connecticut
Country [6] 0 0
United States of America
State/province [6] 0 0
District of Columbia
Country [7] 0 0
United States of America
State/province [7] 0 0
Florida
Country [8] 0 0
United States of America
State/province [8] 0 0
Georgia
Country [9] 0 0
United States of America
State/province [9] 0 0
Illinois
Country [10] 0 0
United States of America
State/province [10] 0 0
Indiana
Country [11] 0 0
United States of America
State/province [11] 0 0
Iowa
Country [12] 0 0
United States of America
State/province [12] 0 0
Kentucky
Country [13] 0 0
United States of America
State/province [13] 0 0
Louisiana
Country [14] 0 0
United States of America
State/province [14] 0 0
Maryland
Country [15] 0 0
United States of America
State/province [15] 0 0
Massachusetts
Country [16] 0 0
United States of America
State/province [16] 0 0
Michigan
Country [17] 0 0
United States of America
State/province [17] 0 0
Minnesota
Country [18] 0 0
United States of America
State/province [18] 0 0
Missouri
Country [19] 0 0
United States of America
State/province [19] 0 0
Nebraska
Country [20] 0 0
United States of America
State/province [20] 0 0
Nevada
Country [21] 0 0
United States of America
State/province [21] 0 0
New Jersey
Country [22] 0 0
United States of America
State/province [22] 0 0
New York
Country [23] 0 0
United States of America
State/province [23] 0 0
North Carolina
Country [24] 0 0
United States of America
State/province [24] 0 0
Ohio
Country [25] 0 0
United States of America
State/province [25] 0 0
Oregon
Country [26] 0 0
United States of America
State/province [26] 0 0
Pennsylvania
Country [27] 0 0
United States of America
State/province [27] 0 0
Rhode Island
Country [28] 0 0
United States of America
State/province [28] 0 0
South Carolina
Country [29] 0 0
United States of America
State/province [29] 0 0
Texas
Country [30] 0 0
United States of America
State/province [30] 0 0
Utah
Country [31] 0 0
United States of America
State/province [31] 0 0
Virginia
Country [32] 0 0
United States of America
State/province [32] 0 0
Washington
Country [33] 0 0
United States of America
State/province [33] 0 0
Wisconsin
Country [34] 0 0
Argentina
State/province [34] 0 0
Buenos Aires
Country [35] 0 0
Belgium
State/province [35] 0 0
Brussel
Country [36] 0 0
Belgium
State/province [36] 0 0
Bruxelles
Country [37] 0 0
Belgium
State/province [37] 0 0
Leuven
Country [38] 0 0
Belgium
State/province [38] 0 0
Roeselare
Country [39] 0 0
Brazil
State/province [39] 0 0
Rio Grande Do Sul
Country [40] 0 0
Brazil
State/province [40] 0 0
São Paulo
Country [41] 0 0
Brazil
State/province [41] 0 0
Rio de Janeiro
Country [42] 0 0
Canada
State/province [42] 0 0
Alberta
Country [43] 0 0
Canada
State/province [43] 0 0
British Columbia
Country [44] 0 0
Canada
State/province [44] 0 0
Manitoba
Country [45] 0 0
Canada
State/province [45] 0 0
New Brunswick
Country [46] 0 0
Canada
State/province [46] 0 0
Ontario
Country [47] 0 0
Canada
State/province [47] 0 0
Quebec
Country [48] 0 0
Chile
State/province [48] 0 0
Los Angeles
Country [49] 0 0
Chile
State/province [49] 0 0
Talcahuano
Country [50] 0 0
Colombia
State/province [50] 0 0
Bogotá
Country [51] 0 0
Croatia
State/province [51] 0 0
Zagreb
Country [52] 0 0
Czechia
State/province [52] 0 0
Praha 2
Country [53] 0 0
Denmark
State/province [53] 0 0
København Ø
Country [54] 0 0
Egypt
State/province [54] 0 0
Cairo
Country [55] 0 0
France
State/province [55] 0 0
Bordeaux
Country [56] 0 0
France
State/province [56] 0 0
BRON Cedex
Country [57] 0 0
France
State/province [57] 0 0
Marseille Cedex 05
Country [58] 0 0
France
State/province [58] 0 0
Paris Cedex 12
Country [59] 0 0
France
State/province [59] 0 0
Paris
Country [60] 0 0
France
State/province [60] 0 0
Vandoeuvre Les Nancy Cedex
Country [61] 0 0
Germany
State/province [61] 0 0
Hamburg
Country [62] 0 0
Germany
State/province [62] 0 0
Mainz
Country [63] 0 0
Hong Kong
State/province [63] 0 0
Kowloon
Country [64] 0 0
Hungary
State/province [64] 0 0
Pécs
Country [65] 0 0
India
State/province [65] 0 0
Ahmedabad
Country [66] 0 0
India
State/province [66] 0 0
Kolkata
Country [67] 0 0
India
State/province [67] 0 0
Secunderabad
Country [68] 0 0
India
State/province [68] 0 0
Vellore
Country [69] 0 0
Indonesia
State/province [69] 0 0
Jakarta
Country [70] 0 0
Ireland
State/province [70] 0 0
Dublin
Country [71] 0 0
Italy
State/province [71] 0 0
Ancona
Country [72] 0 0
Italy
State/province [72] 0 0
Cusano Milanino
Country [73] 0 0
Italy
State/province [73] 0 0
Firenze
Country [74] 0 0
Italy
State/province [74] 0 0
Genova
Country [75] 0 0
Italy
State/province [75] 0 0
Milano
Country [76] 0 0
Italy
State/province [76] 0 0
Napoli
Country [77] 0 0
Italy
State/province [77] 0 0
Padova
Country [78] 0 0
Italy
State/province [78] 0 0
Roma
Country [79] 0 0
Italy
State/province [79] 0 0
Udine
Country [80] 0 0
Japan
State/province [80] 0 0
Kochi
Country [81] 0 0
Japan
State/province [81] 0 0
Tokyo
Country [82] 0 0
Korea, Republic of
State/province [82] 0 0
Gyeongsangnam-do
Country [83] 0 0
Korea, Republic of
State/province [83] 0 0
Daejeon
Country [84] 0 0
Korea, Republic of
State/province [84] 0 0
Jeonnam
Country [85] 0 0
Korea, Republic of
State/province [85] 0 0
Seoul
Country [86] 0 0
Kuwait
State/province [86] 0 0
Kuwait
Country [87] 0 0
Lebanon
State/province [87] 0 0
Beirut
Country [88] 0 0
Malaysia
State/province [88] 0 0
Jalan Pahang
Country [89] 0 0
Malaysia
State/province [89] 0 0
Kuala Lumpur
Country [90] 0 0
Netherlands
State/province [90] 0 0
Amsterdam
Country [91] 0 0
Netherlands
State/province [91] 0 0
Rotterdam
Country [92] 0 0
Pakistan
State/province [92] 0 0
Lahore
Country [93] 0 0
Philippines
State/province [93] 0 0
Manila
Country [94] 0 0
Poland
State/province [94] 0 0
Warszawa
Country [95] 0 0
Portugal
State/province [95] 0 0
Coimbra
Country [96] 0 0
Romania
State/province [96] 0 0
Cluj Napoca
Country [97] 0 0
Russian Federation
State/province [97] 0 0
Moscow
Country [98] 0 0
Saudi Arabia
State/province [98] 0 0
Makkah
Country [99] 0 0
Saudi Arabia
State/province [99] 0 0
Qatif
Country [100] 0 0
Singapore
State/province [100] 0 0
Singapore
Country [101] 0 0
Slovakia
State/province [101] 0 0
Bratislava
Country [102] 0 0
Sweden
State/province [102] 0 0
Stockholm
Country [103] 0 0
Taiwan
State/province [103] 0 0
Chiayi
Country [104] 0 0
Taiwan
State/province [104] 0 0
Hualien
Country [105] 0 0
Taiwan
State/province [105] 0 0
Kaohsiung Hsien,
Country [106] 0 0
Taiwan
State/province [106] 0 0
Kaohsiung
Country [107] 0 0
Taiwan
State/province [107] 0 0
New Taipei City
Country [108] 0 0
Taiwan
State/province [108] 0 0
Putz City, Chia-yi
Country [109] 0 0
Taiwan
State/province [109] 0 0
Taichung City
Country [110] 0 0
Taiwan
State/province [110] 0 0
Taichung
Country [111] 0 0
Taiwan
State/province [111] 0 0
Tainan
Country [112] 0 0
Taiwan
State/province [112] 0 0
Taipei
Country [113] 0 0
Taiwan
State/province [113] 0 0
Tao Yuan County
Country [114] 0 0
Thailand
State/province [114] 0 0
Bangkok
Country [115] 0 0
Thailand
State/province [115] 0 0
Khon Kaen
Country [116] 0 0
United Kingdom
State/province [116] 0 0
Birmingham
Country [117] 0 0
United Kingdom
State/province [117] 0 0
Glasgow
Country [118] 0 0
United Kingdom
State/province [118] 0 0
London
Country [119] 0 0
United Kingdom
State/province [119] 0 0
Manchester
Country [120] 0 0
United Kingdom
State/province [120] 0 0
Salford
Country [121] 0 0
Vietnam
State/province [121] 0 0
Hanoi
Country [122] 0 0
Vietnam
State/province [122] 0 0
Ho Chi Minh City

Funding & Sponsors
Primary sponsor type
Commercial sector/Industry
Name
Genzyme, a Sanofi Company
Address
Country

Ethics approval
Ethics application status

Summary
Brief summary
The Mucopolysaccharidosis I (MPS I) Registry is an ongoing, observational database that
tracks the outcomes of patients with MPS I. The data collected by the MPS I Registry will
provide information to better characterize the natural history and progression of MPS I as
well as the clinical responses of patients receiving enzyme replacement therapy, such as
Aldurazyme (Recombinant Human Alpha-L-Iduronidase), or other treatment modalities.

The objectives of the Registry are:

- To evaluate the long-term effectiveness and safety of Aldurazyme® (laronidase)

- To characterize and describe the MPS I population as a whole, including the variability,
progression, and natural history of MPS I

- To help the MPS I medical community with the development of recommendations for
monitoring patients and reports on patient outcomes to optimize patient care
Trial website
https://clinicaltrials.gov/ct2/show/NCT00144794
Trial related presentations / publications
Viskochil D, Muenzer J, Guffon N, Garin C, Munoz-Rojas MV, Moy KA, Hutchinson DT. Carpal tunnel syndrome in mucopolysaccharidosis I: a registry-based cohort study. Dev Med Child Neurol. 2017 Dec;59(12):1269-1275. doi: 10.1111/dmcn.13545. Epub 2017 Sep 11.
Arn P, Bruce IA, Wraith JE, Travers H, Fallet S. Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I. Ann Otol Rhinol Laryngol. 2015 Mar;124(3):198-205. doi: 10.1177/0003489414550154. Epub 2014 Sep 11.
Beck M, Arn P, Giugliani R, Muenzer J, Okuyama T, Taylor J, Fallet S. The natural history of MPS I: global perspectives from the MPS I Registry. Genet Med. 2014 Oct;16(10):759-65. doi: 10.1038/gim.2014.25. Epub 2014 Mar 27.
Public notes

Contacts
Principal investigator
Name 0 0
Medical Monitor
Address 0 0
Genzyme, a Sanofi Company
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
For site information, send an email with site number to
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
[email protected]
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/ct2/show/NCT00144794